Product Details

SNP ID
rs145920257
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119110594 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCCAGCTCTCTGCTGAGGAGGTG[C/T]GGTTCCCAGTCTCTGTGACCCAGCA
Phenotype
MIM: 191350
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C2CD2L PubMed Links

Gene Details

Gene
C2CD2L
Gene Name
C2CD2 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001290474.1 1165 Missense Mutation CGG,TGG R162W NP_001277403.1
NM_014807.4 1165 Missense Mutation CGG,TGG R162W NP_055622.3
XM_006718948.3 1165 Missense Mutation CGG,TGG R162W XP_006719011.1
XM_011543076.2 1165 Missense Mutation CGG,TGG R13W XP_011541378.1
XM_017018625.1 1165 Missense Mutation CGG,TGG R162W XP_016874114.1
XM_017018626.1 1165 Missense Mutation CGG,TGG R162W XP_016874115.1
XM_017018627.1 1165 Missense Mutation CGG,TGG R162W XP_016874116.1
XM_017018628.1 1165 Missense Mutation CGG,TGG R13W XP_016874117.1
Gene
DPAGT1
Gene Name
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
There are no transcripts associated with this gene.

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